[Detection of a new mutation (T1140C)in a Chinese Guangdong patient with hunter syndrome].

To identify mutations of iduronate-2-sulfatase (IDS) gene in a patient with Hunter syndrome and to establish a basis for prenatal gene diagnosis of Hunter syndrome. Urine GAG assay was used for preliminary diagnosis of mucopolysaccharidosis. PCR from dried blood spots and DNA sequencing were applied to analyze hot spot mutations in exons 9, 3, 8 of the IDS gene in the proband and his parents.

[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II].

Objective: Mutations of the iduronate-2-sulfatase (IDS) gene is the ultimate cause of Hunter syndrome. Clarification of the nature of mutations will create a necessary premise for prenatal gene diagnosis. A mucopolysaccharidosis (MPS) type II patient and his parents from an ethnic minority in Yunnan province were studied to identify their possible mutation in IDS gene to establish the basis for prenatal gene diagnosis.

[A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome].

Objective: To identify the mutations of iduronate-2-sulfatase (IDS) gene, and to establish a basis of prenatal gene diagnosis of Hunter syndrome.

Methods: Urine glycosaminoglycan (GAG) assay was used to preliminary diagnosis of mucopolysaccharidosis. PCR-denaturing high-performance liquidchromatograptly (PCR-DHPLC) analysis was performed to detect the mutation in exons 9, 3, 8 of the IDS gene.

Denaturing high-performance liquid chromatography technique platform applied to screen G6PD deficient variants.

Objective: Of denaturing high performance liquid chromatography (DHPLC), a technique platform was developed for screening G6PD deficient variants.

Methods: When applied to screen and identify the G6PD deficient variants from 124 patients who come from 11 nations in China, the DHPLC was compared with amplification refractory mutation system (ARMS) or DNA sequence technique and assessed carefully in its accuracy, sensitivity, efficiency and the cost of experiment.

Results: The G6PD-deficient variants, such as 1388 G-->A (36/124 cases), 1376 G-->T(35), 95 A-->G (14), 1024 C-->T (3), 392 G-->T (4), 871 G-->A /1311 C-->T /IVS XI +93 t-->c (9), 871 G-->A (1), 1311 C-->T/IVS XI +93 t-->c (4), 1376 G-->T /1388 G-->A (1) and so on, were characterized as sharp peaks by DHPLC and verified by DNA sequence.

[Detection and analysis of the sub-types of -alpha3.7 in Chinese].

-alpha3.7 is a common deletional alpha-thalassemia-2 in China. According to different recombination sites,-alpha3.

[RFLP of a StuI site in the GALNS gene in Morquio Syndrome of Guangdong national minority population].

To investigate the genetic polymorphism of the StuI site in the GALNS gene from a national minority population in Guangdong and to study the mode of transmission of alleles,PCR-RFLP was used to analyze 144 chromosomes from 72 Guangdong unrelated healthy national minority individuals,and the genotypes of members in three families. To compare the frequencies and heterzygosity between Guangdong national minority people and Caucasians,Japanese and Chinese Han people by using chi2 test. The frequency of allele D1(295bp) was 0.

[Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].

Objective: To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.

Methods: Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11.

[Identification of G6PD gene variants from Hakka population in Guangdong province].

Objective: Studying on G6PD polymorphism from Hakka population in Guangdong province.

Methods: Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies.

Results: Mutations of G6PD gene in cDNA 1388 (G-->A), 1376 (G-->T), 95 (A-->G), 392 (G-->T), 1024 (C-->T), 1311 (C-->T) have been found.

[Study on gene mutations of alpha-thalassemia in the South of China].

There is a high prevalence of thalassemia in the South of China. To explore the genotype of alpha-thalassemia as well as the distribution of alpha globin gene mutation in the South of China, 356 patients with heterozygote alpha(+) thalassemia, heterozygote alpha(0) or homozygote alpha(+) thalassemia and 78 patients with HbH were analyzed. The gene diagnosis methods including Gap-PCR, nested-PCR, PCR-RE, PCR-SSCP, 4P-ASPCR and DNA sequence analysis were used.